Department of Gastroenterology, Cancer Institute Hospital, Japanese Foundation for Cancer Research, Tokyo, Japan.
Cancer Precision Medicine Center, Cancer Institute, Japanese Foundation for Cancer Research, Tokyo, Japan.
Cancer Sci. 2019 Apr;110(4):1148-1155. doi: 10.1111/cas.13972. Epub 2019 Mar 4.
Colorectal cancer (CRC) is currently the most common type of cancer in Japan, and its prognosis has improved because of development of diagnosis and advancement in treatments including surgery and chemotherapy. However, because of intratumor heterogeneity and clonal evolution, tumors often develop resistance to treatment. Genotyping tumor tissue in search of somatic genetic alterations for actionable information has become routine examination in clinical practice. However, the inherent molecular heterogeneity of metastatic tumors and the ability of cancer genomes to dynamically evolve are not properly captured by tissue specimens only. Circulating tumor DNA (ctDNA) carrying tumor-specific genetic or epigenetic alterations is released into the circulation from tumor cells undergoing apoptosis or necrosis. Analysis of ctDNA has the potential to change clinical practice by exploiting blood rather than tissue, as a source of information. Here, we provide an overview of the characteristics of ctDNA and focus on detection methods for ctDNA, and the feasibility of use of ctDNA to monitor tumor dynamics for patients with colorectal cancer.
结直肠癌(CRC)是目前日本最常见的癌症类型,由于诊断技术的发展和手术、化疗等治疗方法的进步,其预后得到了改善。然而,由于肿瘤内异质性和克隆进化,肿瘤常常对治疗产生耐药性。对肿瘤组织进行基因分型以寻找针对特定遗传改变的治疗方法已成为临床实践中的常规检查。然而,仅通过组织标本并不能很好地捕捉到转移性肿瘤的固有分子异质性和癌症基因组的动态进化能力。携带肿瘤特异性遗传或表观遗传改变的循环肿瘤 DNA(ctDNA)会从正在凋亡或坏死的肿瘤细胞中释放到循环中。分析 ctDNA 有可能通过利用血液而不是组织作为信息来源来改变临床实践。在这里,我们提供了 ctDNA 的特征概述,并重点介绍了 ctDNA 的检测方法,以及利用 ctDNA 监测结直肠癌患者肿瘤动态的可行性。